ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.914G>A (p.Arg305Gln)

gnomAD frequency: 0.00006  dbSNP: rs141603023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093618 SCV002381304 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339923 SCV004047392 uncertain significance Tyrosinase-positive oculocutaneous albinism criteria provided, single submitter clinical testing The amino acid Arg at position 305 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change in OCA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is reported in gnomAD with the allele frequency of 0.00007787. Most carriers are normally asymptomatic as pathologic mutation in one copy of the OCA2 gene does not result in OCA. However, some individuals have been reported to have mild phenotypes, such as a small degree of iris transillumination, or hair and skin hypopigmentation in a heterozygous state (Sang Yoon Lee et al). For these reasons, this variant has been classified as uncertain significance.

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